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CDK gene family

Reviewed August 2012

What are the CDK genes?

The genes in the CDK family provide instructions for making proteins called cyclin-dependent kinases (CDKs). These proteins are best known for their role in regulating the step-by-step process that cells go through to replicate themselves (known as the cell cycle). Tight regulation of the cell cycle ensures that a dividing cell's DNA is copied properly, any errors in the DNA are repaired, and each cell that is produced receives a full set of chromosomes.

CDK proteins act as kinases, which are enzymes that change the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. Through this process, called phosphorylation, CDKs turn on (activate) or off (inactivate) proteins involved in the different steps of the cell cycle. Unlike some kinases, however, CDKs require interaction with other proteins known as cyclins in order to have kinase activity. Particular CDK and cyclin combinations are involved in each step of the cell cycle.

Many CDK proteins are not directly involved in cell cycle control. Through phosphorylation, these CDKs can regulate other important cellular processes such as the first step in the production of proteins from genes (gene transcription), the maturation of cells to carry out specific functions (differentiation), and the self-destruction of cells (apoptosis).

Some genes in the CDK family are designated cyclin-dependent kinase-like (CDKL). The proteins produced from these genes function as kinases, but they may not require interaction with cyclins to be active. Because these CDK-like proteins have similar functions to other CDK proteins, the genes that provide instructions for them are included in the CDK family.

Some genes in the CDK family produce proteins that are involved in the development and function of cells in the nervous system. Mutations in these genes can disrupt the nervous system, causing neurological problems such as seizures and intellectual disability. Mutations in at least one CDK gene, CDKL5, are associated with disorders that feature recurrent seizures known as infantile spasms, intellectual disability, and other developmental problems.

Which genes are included in the CDK gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.

Genetics Home Reference summarizes the normal function and health implications of this member of the CDK gene family: CDKL5.

What conditions are related to genes in the CDK gene family?

Genetics Home Reference includes these conditions related to genes in the CDK gene family:

X-linked infantile spasm syndrome

Where can I find additional information about
the CDK gene family?

You may find the following resources about the CDK gene family helpful.

Molecular Biology of the Cell (fourth edition, 2002): Components of the Cell-Cycle Control System (http://www.ncbi.nlm.nih.gov/books/NBK26824/)

Molecular Cell Biology (fourth edition, 2000): Overview of the Cell Cycle and Its Control (http://www.ncbi.nlm.nih.gov/books/NBK21466/)

What glossary definitions help with understanding the CDK gene family?

The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.